Disease of the lymphatics can be either developmental or acquired. Developmental disorders include heritable forms of lymphatic pathology, such as Milroy's disease, as well as congenital vascular malformations, such as Klippel-Trenaunay syndrome (Table 40-1). Acquired forms of lymphatic disease may arise from damage to, or disruption of, the lymphatics by trauma, infection, neoplasms, or iatrogenic causes. These iatrogenic sources of lymphatic vascular insufficiency include trauma induced by surgery or radiotherapy. Heritable forms of lymphedema are uncommon, with the highest frequency associated with Klinefelter's syndrome.1 Globally, lymphatic filariasis contributes the greatest share of the lymphatic disease burden,2 but in the developed world, where filariasis is distinctly uncommon, most lymphatic pathology arises as a direct consequence of the treatment of malignant melanoma and breast and pelvic malignancies. Lymphedema is a common complication of treatment and has increased as the number of cancer survivors has grown.3
TABLE 40-1.Complex Vascular Malformations247 |Favorite Table|Download (.pdf) TABLE 40-1. Complex Vascular Malformations247
|Disease Condition ||Symptoms ||Signs ||Laboratory Studies ||Genetic Defects Inheritance ||Pathology ||Associated Conditions ||Diagnostic Methods ||Differential Diagnosis |
|Proteus syndrome ||Partial gigantism, long face, wide nasal bridge, mouth open at rest, upper body wasting, learning disabilities, occasional seizures ||Cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi || ||Somatic mosaicism for a dominant lethal gene yet to be identified (in mosaicism, a fraction of cells have mutation, and a fraction do not) ||Connective tissue nevi resemble tightly compacted, collagen-rich connective tissue; epidermal nevi generally exhibit a combination of hyperkeratosis, parakeratosis, acanthosis, and papillomatosis || ||Radiography CT or MRI ||Neurofibromatosis; Klippel-Trenaunay-Weber syndrome |
|Maffucci syndrome ||Soft, blue-colored growths of distal aspects of extremities; short stature; unequal arm or leg length ||Enchondroma (benign enlargements of cartilage) with multiple angiomas; bone deformities; dark, irregularly shaped hemangiomas || ||Sporadic; manifests early in life (around age 4–5 years) with 25% of cases congenital ||Thrombi often form within vessels and develop into phleboliths, which appear as calcified vessels under microscope; chondrosarcomas diagnosed by poorly differentiated pleiomorphic chondrocytes ||Enchondromas develop from mesodermal dysplasia; bones grow cartilage left behind; grows irregularly, developing into bone deformities (shortened length of long bones, unequal leg length, pathologic fractures, malunion of fractures); chondrosarcoma; hemangiosarcoma; lymphangiosarcomas ||Radiology; CT or MRI; bone biopsy if enchondroma undergoing changes ||Kaposi sarcoma; Klippel-Trenaunay-Weber syndrome; Proteus syndrome |
|Blue rubber bleb nevus syndrome (multiple cutaneous venous malformations in association with visceral lesions (most commonly affecting the GI tract) ||Skin lesions are multiple, protuberant, dark blue, compressible blebs with the look and feel of a rubber nipple ||Lesions are asymptomatic but may be painful or tender; increased sweating on the skin overlying the lesion; fatigue from blood loss; hematemesis, melena, or frank rectal bleeding; joint pain; blindness caused by cerebral or cerebellar cavernomas that hemorrhage into the occipital lobes ||Fecal occult blood test to screen for occult blood loss; CBC count to screen for iron-deficiency anemia; urinalysis (hematuria may ...|
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